| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290524 |
| Start |
151342978:151342978(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1059delC |
| AA Mutation |
p.Arg354GlyfsTer7(p.R354Gfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290524 |
| Start |
151342253:151342253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1784T>A |
| AA Mutation |
p.Leu595Ter(p.L595*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290524 |
| Start |
151342312:151342313(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1724dupA |
| AA Mutation |
p.Glu576GlyfsTer17(p.E576Gfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |